Neuromuscular Pathology Lab

Rochester

An open muscle biopsy or needle muscle biopsy are procedures to remove a sample of muscle to diagnose inherited or acquired muscle diseases. These are often performed to uncover or diagnose:

• An inherited muscle disease (a muscular dystrophy)
• An acquired muscle disease, most often caused by inflammation of the muscle
• Sarcoidosis
• Systemic vasculitis
• Mitochondrial disorders

In this procedure, a small sample of a nerve is removed to diagnose inflammatory or immune-mediated conditions, like amyloidosis or vasculitis. 

Skin biopsies are used to evaluate epidermal sensory nerve fibers, which cannot be evaluated by nerve conduction studies and EMG. These biopsies are typically taken from the ankle and thigh, although the location can be varied based on your symptoms and condition.

Skin biopsies can help diagnose:

• Suspected small fiber sensory neuropathies in patients with unexplained burning, pain, numbness, or tingling in their feet or legs
• The presence and severity of sensory neuropathy when nerve conduction studies and EMG are not diagnostic
• Focal sensory neuropathies such as meralgia paresthetica (lateral femoral cutaneous neuropathy)
• Presence of small fiber neuropathy in patients with fibromyalgia
• A peripheral nervous system cause for numbness or tingling and distinguish it from central sensory disorders (e.g., multiple sclerosis) that do not cause loss of epidermal nerve fibers
• Small fiber neuropathy as a cause of late onset restless leg syndrome